Lysosomal acid lipase deficiency (LAL-D) Please rate this page (bottom of page)

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Definition

Autosomal hereditary storage disease with too low production of the enzyme active lysosomal acid lipase.

Symptoms

  • From the first year of life
    • Big belly
    • Indigestion
    • Lack of weight gain
    • Lack of growth
    • Yellow-colored skin
  • Milder cases
    • Diagnosed among young adults
    • Heart disease
    • Liver failure
    • Stroke

Examinations

  • Large liver and liver failure
  • Anemia (low hemoglobin level)
  • High cholesterol

Treatment

  • Sebelipase alfa replaces lack of enzyme

Prevention

  • Prenatal fetus diagnosis is possible
  • Genetic counseling (25% risk of sibling getting sick)

Literature

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